Linked Data
ClinVar Variation Id:
424418
dbSNP Id:
rs786205466
gnomAD v2:
10-121436696-G-A
gnomAD v4:
10-119677184-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119677184G>A , CM000672.2:g.119677184G>A | GRCh38 |
| NC_000010.10:g.121436696G>A , CM000672.1:g.121436696G>A | GRCh37 |
| NC_000010.9:g.121426686G>A | NCBI36 |
| NG_016125.1:g.30815G>A , LRG_742:g.30815G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.1630G>A MANE Select | ENSP00000358081.4:p.Asp544Asn | |
| ENST00000369085.7:c.1630G>A | ENSP00000358081.3:p.Asp544Asn | |
| NM_004281.3:c.1630G>A , LRG_742t1:c.1630G>A | NP_004272.2:p.Asp544Asn | |
| XM_005270287.1:c.1627G>A | XP_005270344.1:p.Asp543Asn | |
| XM_005270287.2:c.1627G>A | XP_005270344.1:p.Asp543Asn | |
| NM_004281.4:c.1630G>A MANE Select | NP_004272.2:p.Asp544Asn |